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Principles and practice of the muscular dystrophies

紀錄類型:	書目-電子資源 : Monograph/item
正題名/作者:	Principles and practice of the muscular dystrophiesedited by Pushpa Narayanaswami, Teerin Liewluck.
其他作者:	Narayanaswami, Pushpa.
出版者:	Cham :Springer International Publishing :2023.
面頁冊數:	xiv, 348 p. :ill. (some col.), digital ;24 cm.
Contained By:	Springer Nature eBook
標題:	Muscular dystrophy.
電子資源:	https://doi.org/10.1007/978-3-031-44009-0
ISBN:	9783031440090$q(electronic bk.)

Principles and practice of the muscular dystrophies
Principles and practice of the muscular dystrophies[electronic resource] /edited by Pushpa Narayanaswami, Teerin Liewluck. - Cham :Springer International Publishing :2023. - xiv, 348 p. :ill. (some col.), digital ;24 cm. - Current clinical neurology,2524-4043. - Current clinical neurology..

An Introduction to the Muscular Dystrophies -- Dystrophinopathies -- Myotonic dystrophies -- Facioscapulohumeral Muscular Dystrophy -- Autosomal Dominant Limb-Girdle Muscular Dystrophies -- Autosomal recessive limb-girdle muscular dystrophy -- Oculopharyngeal Muscular Dystrophy -- Distal Muscular Dystrophies -- GNE MYOPATHY -- Emery-Dreifuss Muscular Dystrophies -- Congenital muscular dystrophies -- Myopathies with myofibrillar pathology -- Oculopharyngodistal myopathy -- Genetic Diagnosis and Counseling in Muscular Dystrophies -- Muscle Imaging in Muscular Dystrophies -- The Role of The Muscle Biopsy in The Era of Genetic Diagnosis -- Systemic Complications of Muscular Dystrophies -- Molecular Genetic Therapies in the Muscular Dystrophies -- Physical therapy, bracing and surgical treatment in muscular dystrophies -- Trial Design and Outcome Measurement in Muscular Dystrophies.

The field of muscular dystrophies has expanded significantly with the discovery of the genetic defects and protein products underlying these disorders. New treatments such as antisense oligonucleotides and siRNAs and gene therapies are now in clinical application and in trials. As clinical trials increase, outcome measurement becomes very important, and more validated tools are being developed. This book provides a comprehensive review of these disorders. Clinical features, diagnostic testing including genetic testing of these disorders, the basis and utility of genetic testing, and the basis of genetic therapies are all covered in detail. This book will provide neuromuscular neurologists, general neurologists, and neuromuscular fellows with a much needed update in the field.

ISBN: 9783031440090$q(electronic bk.)

Standard No.: 10.1007/978-3-031-44009-0doiSubjects--Topical Terms:

571725
Muscular dystrophy.

LC Class. No.: RC935.M7

Dewey Class. No.: 616.748

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505 0 $a An Introduction to the Muscular Dystrophies -- Dystrophinopathies -- Myotonic dystrophies -- Facioscapulohumeral Muscular Dystrophy -- Autosomal Dominant Limb-Girdle Muscular Dystrophies -- Autosomal recessive limb-girdle muscular dystrophy -- Oculopharyngeal Muscular Dystrophy -- Distal Muscular Dystrophies -- GNE MYOPATHY -- Emery-Dreifuss Muscular Dystrophies -- Congenital muscular dystrophies -- Myopathies with myofibrillar pathology -- Oculopharyngodistal myopathy -- Genetic Diagnosis and Counseling in Muscular Dystrophies -- Muscle Imaging in Muscular Dystrophies -- The Role of The Muscle Biopsy in The Era of Genetic Diagnosis -- Systemic Complications of Muscular Dystrophies -- Molecular Genetic Therapies in the Muscular Dystrophies -- Physical therapy, bracing and surgical treatment in muscular dystrophies -- Trial Design and Outcome Measurement in Muscular Dystrophies.
520 $a The field of muscular dystrophies has expanded significantly with the discovery of the genetic defects and protein products underlying these disorders. New treatments such as antisense oligonucleotides and siRNAs and gene therapies are now in clinical application and in trials. As clinical trials increase, outcome measurement becomes very important, and more validated tools are being developed. This book provides a comprehensive review of these disorders. Clinical features, diagnostic testing including genetic testing of these disorders, the basis and utility of genetic testing, and the basis of genetic therapies are all covered in detail. This book will provide neuromuscular neurologists, general neurologists, and neuromuscular fellows with a much needed update in the field.
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